INCLUDING: Alzheimer's, Dual Diagnosis, and How to Engage with your Doctors
Though many parents have tended to numerous health challenges for their loved one since birth, it is especially important to be aware of those common health risks for adults with Down syndrome. Caregivers of loved ones at any age should be aware of the risks and steps to manage these conditions now.
According to Tara Goodwin, D.O. of the Adult Down Syndrome Clinic of QuestCare Dallas[i] who specializes in healthcare for people with Down syndrome, “the 21st chromosome is not a ‘bad’ chromosome. The health-related issues we see as more prevalent [in people with Down syndrome] are most likely due to the trisomy…so the excess of particular genes that may be overexpressed.”[ii] Nevertheless, this longer lifespan means families are grappling with health conditions for longer periods, as well as confronting new issues as people age into their 50s and 60s. Parents and caregivers play indispensable roles in ensuring recent and future advances benefit our loved ones.
To build your own knowledge and equip yourself to advocate with the medical team, start with this article. Learn more through the Global Down Syndrome’s Medical Care Guidelines for Adults with Down Syndrome publication found in the Resources section of The Essential Guide for Families with Down Syndrome: Plans and Actions for Independence at Every Stage of Life. Share both with your loved one’s medical team. Make sure they are prepared to learn and engage on these topics with your family. Use medical appointments as opportunities for your self-advocate to learn about their bodies and how to talk about their physical and emotional feelings. Empower them to take steps to take care of themselves.
6 Most Common Health Risks for Adults with Down Syndrome
Six common health issues plague most people with Down syndrome throughout their adult lives. The prevalence of these conditions within our community may surprise you and your medical team. If your loved one has been diagnosed with any of these, pay attention to the Management tips listed. Otherwise, have your medical team screen for each of these at appropriate intervals. Dr. Tara Goodwin has contributed to the information below and supports the need for families to educate themselves.
1. Hypothyroidism: Your brain’s hypothalamus produces a hormone that tells the pituitary gland to make a thyroid-stimulating hormone (TSH). If your body has an underactive thyroid or doesn’t produce enough hormones, hypothyroidism results.
a. Prevalence: 5-10% of the general public,[iii] approximately 40-50% of people with Down syndrome[iv]
b. Onset: In Down syndrome, this is most commonly related to congenital hypothyroidism, which is usually identified at birth, or to an autoimmune disorder called Hashimoto’s thyroiditis which can develop later in life.
c. Symptoms: Thyroid hormones are important to every cell in the body, and therefore hypothyroidism can cause a multitude of symptoms including low energy, muscle pain or weakness, difficulty thinking and focusing, behavioral changes and irritability, weight gain, impaired cognition, constipation, lethargy, dry skin, slowed speech, and more.
d. Prevention: There are no particular preventative steps. Because many symptoms of hypothyroidism are common in individuals with Down syndrome who do not have hypothyroidism, it is important to screen regularly. Pediatric guidelines recommend newborn screening and again at 6 months, followed by annual screening thereafter.
e. Management: Frequent monitoring of levels may be needed while taking thyroid replacement medication in order to ensure the correct dosing.
f. Repercussions: If unchecked, hypothyroidism can result in less energy and lower metabolism (hence weight gain) as well as slower cognitive development, all of which are already challenges for adults with Down syndrome.
2. Obstructive Sleep Apnea (OSA): Due to anatomic abnormalities more common in Down syndrome like narrower passageways and other comorbidities like hypotonia and obesity, sleep apnea is quite common in the Down syndrome community.
a. Prevalence: 26% of the general public ages 30-70,[v] approximately 60% of children with Down syndrome by age 4.[vi]
b. Onset: Often starts as a baby/toddler and can increase in severity as one ages.
c. Symptoms: 53% of individuals diagnosed with OSA have NO associated symptoms like snoring[vii] but still can suffer from cessation of breathing during sleep, daytime drowsiness or irritability, mouth breathing or nasal voice, and restlessness during sleep.
d. Prevention: There are no particular steps to prevent sleep apnea. Pediatric guidelines recommend a sleep study at age 3-5 years.
e. Management: See your doctor at the earliest sign for testing. Sometimes tonsils or adenoids will be removed to improve breathing. Adjunctive therapies like nasal steroids, palatal expansion, uvulectomy, or oropharyngeal (back of the throat) exercises can also be helpful. Often the doctor will eventually prescribe a continuous positive pressure ventilation device (CPAP) to be worn during sleep. With support and practice, this can become part of your child’s nighttime routine. Multiple research studies on hypoglossal nerve stimulators are currently underway involving children and adults with Down syndrome. These implanted stimulators have been shown to improve obstruction in the general population.
f. Repercussions: If unchecked, OSA can result in poor sleep and low energy, but also hypertension, heart issues, behavioral issues, decreased cognitive abilities, and/or reduced growth rate.
3. Obesity: Many adolescents and adults with Down syndrome are overweight and obese due to slower metabolism, often exacerbated by hypothyroidism, obstructive sleep apnea, stubbornness, or a lack of inclusion in group activities.
a. Prevalence: 16-18% of general public adolescents,[viii] approximately 30-50% of children with Down syndrome.[ix]
b. Onset: Often starts as a toddler and increases in severity during adolescence.
c. Symptoms: Includes interest to eat on a schedule and when others eat, without recognition of when they are truly hungry. Low metabolism and lack of exercise results in weight gain, even when overeating is not obvious.
d. Prevention: Introduce nutritional training, hunger awareness, and exercise from the earliest age to become part of their lifelong routine.
e. Management: Doctors and nutritionists can provide some guidance. Talking about nutrition, food groups, and hunger awareness around the dinner table can be quite helpful. Starting at age 21, adults with Down syndrome should be screened for Type 2 Diabetes every 2-3 years.[x]
f. Repercussions: If unchecked, can result in skin infections, lung and heart disease, as well as cancer or arthritis. Obesity can complicate obstructive sleep apnea and mental health as well.
4. Celiac Disease: While Celiac Disease is not overly common in people with Down syndrome, the community is six times more likely to contract this disease than the general population.[xi]
a. Prevalence: 1-3% of the typical populations and approximately 5-20% of individuals with Down syndrome will have Celiac Disease.
b. Onset: It can occur across the lifespan.
c. Symptoms: Includes poor weight gain, diarrhea, vomiting, constipation, anemia, nutritional deficiencies, irritability, and behavior changes.
d. Prevention: Because symptoms can overlap with some traits common to Down syndrome, it is important to screen. There are no pediatric guidelines addressing testing, but adult practice guidelines recommend annual screening for symptoms and appropriate testing if there is concern. Testing includes a screening blood test and possibly a small bowel biopsy to confirm.
e. Management: Treatment involves following a gluten-free regimen that eliminates all wheat, barley, and rye from the diet as well as cross-contamination with these foods.
f. Repercussions: Delayed diagnosis can lead to malnutrition, decreased growth, neuropathies, osteoporosis, and certain intestinal lymphomas.
5. Mental Health: Well beyond the Intellectual/Developmental Disability diagnosis, lack of inclusion at school, at home, or in their own future plans impacts their mental condition. Additionally, obesity and poor communication skills affect their ability to share their emotional state and concerns, often resulting in mental health issues by adulthood. Since the prevalence of mental health concerns has more to do with the environment and support than genetics, the frequency of these issues within the Down syndrome community could revert toward the general population more so than the other common health issues noted.
a. Prevalence: Mental health issues such as anxiety, obsessive-compulsive disorder (OCD), and depression are twice as likely in individuals with Down syndrome.[xii] While this could be understated as the diagnosis itself can be difficult to attain for those with cognitive disabilities, it is also common for normal characteristics of people within the I/DD community to be misread as mental health issues.
b. Onset: Often starts in adolescence and can increase in severity as one ages.
c. Symptoms: Include inattentiveness, new behavioral issues, sluggishness, skills regression, and new fears of familiar objects or routine events can be signs of mental health issues. On the other hand, characteristics that are common in people with Down syndrome should not be misconstrued as mental illness, including self-talk, delayed or absent verbal skills, “grooves” or routines, repetition and lack of flexibility, tendency towards concrete thinking and difficulty with abstract ideas, distorted time concept, slower processing speeds, poor expressive communication skills with strong receptive skills. Parents, teachers, and caregivers should not be too quick to just mark this up to their Down syndrome or I/DD diagnosis but should delve further seeking to understand root causes. The Diagnostic and Statistical Manual of Mental Disorders and The Diagnostic Manual-Intellectual Disability 2 may also be used to assist with diagnosis.[xiii]
d. Prevention: Mental health issues may not always be preventable but especially for people with Down syndrome, helping them understand their emotions and discussing their concerns may help address issues early.
e. Management: Consider specially trained therapists as an ongoing resource to help people with Down syndrome to recognize issues, share them, and find implementable solutions. Event-specific issues surrounding family illnesses, death, relocation, or change of routine (including most recently the COVID pandemic) can prompt traumatic responses.[xiv] Anticipate these events and ensure a support system of family, close friends, and therapists is prepared to assist. Adults with Down syndrome may also bundle similar memories or emotional events together so triggering one may introduce recall of a series of events which can become overwhelming. Unbundling such events and encouraging appropriate responses to issues (eg, a construed nudge or insult by a classmate does not warrant the same response as recollecting the death of a family member) can help develop strong coping skills.
f. Repercussions: If unchecked, mental health issues can result in skills regression (deterioration of their educational, vocational, and/or social skills), overeating, decreased self-esteem and confidence, and perhaps the earlier onset of dementia.
6. Alzheimer’s Disease: Recent research indicates that one of the genes responsible for Alzheimer’s Disease, the “Alzheimer’s gene,” resides on the 21st chromosome. Due to the overexpression of this chromosome related to trisomy, the frequency, speed, and severity of Alzheimer’s Disease amongst the Down syndrome population is notably higher than the general population. It is hypothesized that one reason for faster progression of Alzheimer’s in any population is related to lower baseline cognition.[xv]
a. Prevalence: 16% of adults in the general population,[xvi] 75% of adults with Down syndrome during their lifetime,[xvii] and notably 50% by age 60, 30% by age 50.[xviii] Signs of Alzheimer’s can set in as early as their 30s and progress much faster in adults with Down syndrome, often leading to death after just 3-6 years. Some studies have expressed prevalence as nearly 100% by age 60!
b. Onset: Research shows that changes in the brain occur, but symptoms do not tend to develop for another 5-10 years.[xix] By age 40, almost all brains of people with Down syndrome have proteins that are Alzheimer’s markers. Alzheimer’s should be a diagnosis of exclusion. It is important to rule out other causes of symptoms effectively before making the diagnosis, especially in individuals younger than 40.
c. Symptoms: Most are similar to the general population including forgetfulness, lack of motivation, belligerence, and new discomfort with old routines. However, one exception is that seizures are more common, affecting 77% in those with Down syndrome compared with 2-25% in the general population, resulting in swallowing difficulty, gait disturbances, and change in personality or behavior, all of which can hasten death.[xx]
d. Prevention: There is no particular prevention, but cognitive disabilities can accelerate the disease, so greater cognitive engagement (learning through education, work, and exposure to new experiences) may help delay the onset. Some indications are that Alzheimer’s occurs most often with learning challenges, hypertension, obesity, diabetes, low physical activity, obstructive sleep apnea, and low social contact, all of which are prevalent with Down syndrome.
e. Management: Pay attention to the symptoms and seek to address the preventative conditions noted above. The National Task Group provides considerable information including a test, Early Detection and Screening for Dementia, NTG-EDSD, that can be taken annually to gauge “1) cognition, memory, and executive function, 2) behavior and personality, 3) communication, 4) adaptive functioning, 5) ambulatory and motor skills, and 6) general decline in established skills.”[xxi] Consider how your loved one may be attended to if/when Alzheimer’s sets in. Some living communities provide sustainable, memory care services. There are no medical treatments approved for use in those with Down syndrome and Alzheimer’s at this time. Treatment for symptoms like depression, insomnia, and agitation may be helpful. Non-medical treatments may have the most impact on day-to-day function, including using visuals, being aware of sensory processing, and using adaptive tools in accommodating one’s environment.
f. Repercussions: There is currently no prevention or cure for Alzheimer’s disease. However, there is a lot of research working toward a cure, much of which overlaps Down syndrome given the shared 21st chromosome.
Dual Diagnosis: Down Syndrome and Autism Spectrum Disorder (ASD)
Many parents who are navigating their child’s development with Down syndrome discover later that their loved one also has autism. Dual diagnosis of Down syndrome and autism is not uncommon (12-41% of people with Down syndrome)[xxii] but it is often misdiagnosed or identified much later in life.
Dr. Sari Bar, Medical Director of the Down Syndrome Clinic at Children’s Health Dallas Campus, attributes much of this problem as “overshadowing,” when a health professional assumes the child’s cognitive or behavior challenges are part of their disability of Down syndrome and fail to explore further.[xxiii] While it is proper that families and doctors first rule out the common health conditions affecting people with Down syndrome, often doctors misconstrue warning signs of autism as symptoms of Down syndrome.
Early diagnosis of autism is quite important in preparing a course of action. According to Dr. Bar, “In general, compared to people with Down syndrome without autism, it is more common for people with dual diagnosis to have:
· Difficulties with communication, social engagement, sensory sensitivities, and behavioral challenges
· Restricted or repetitive behaviors
· Significant cognitive challenges, resulting in slower processing speeds”[xxiv]
Dr. Bar advises that parents consult with an expert in dual diagnosis who may run tests and observations to determine conclusions. The challenges of dual diagnosis are explored further through Chaya’s and Ethan’s stories, featured in The Essential Guide at the end of chapters 7 and 11, respectively.
General Health Approach
The Alzheimer’s Disease & Down Syndrome Guidebook includes these four tips for adults with Down syndrome to stay healthy:[xxvii]
1) Participate in regular cardiovascular exercise like walking or biking.
2) Eat a healthy and balanced diet.
3) Stay mentally stimulated and engaged.
4) Stay socially engaged
Suffice to say, your self-advocate’s general health condition, as well as management of the common health issues above, benefits greatly from a focus on nutrition, fitness, and medications. Forming and reinforcing these healthy habits is a lifelong priority. First, a word about metabolism, since it spans all three of these general health approaches.
Boosting Metabolism
Metabolism is often lower in the Down syndrome community than the general population. As with society overall, metabolism does steadily slow with age, typically from about forty. Thus, the opportunity to spark your loved one’s metabolism is early. WebMD shares various methods that may contribute to improved metabolism:
· Strength training and high intensity aerobic exercises
· Smaller, more frequent meals and healthy snacks
· Replacing carbohydrates with proteins
· Drinking water along with modest amounts of coffee or green tea[xxviii]
Perhaps the most important catalyst for improved metabolism is maintaining proper thyroid levels as discussed in the section above.
Nutrition
Let’s face it, this can be a difficult subject for most adults. Our kids may be further challenged with slow metabolism and a lack of fat-burning physical fitness options. Thus, we should strive to get ahead of this issue and instill positive nutritional habits at a young age. We don’t suddenly crave fruits and vegetables or cut our portion sizes in half after learning to stack carbs on our plates for over a decade. Introduce and role model these positive routines with all your kids reinforce healthy habits.
Fitness & Exercise
While most adolescents and adults with Down syndrome suffer from being overweight or obese, it doesn’t have to be that way. There are many fit self-advocates who tend to follow the steps shared here. Incorporate exercise into their day by incorporating it into your day and bringing them along. If you run or bike or play soccer, include them. They will recognize this is a normal part of the day and they will want to be included. It really doesn’t have to be exhaustive. Just moving around, stretching, and taking walks makes a huge difference. For those with limited mobility, work with Occupational and Physical Therapy to create an appropriate movement program.
Medications and Devices
Gwendolyn now takes a variety of pills and uses a CPAP machine at night. We have been diligent in having doctors involve her in medical appointments and diagnoses. We explain why certain pills may be prescribed and the importance of taking her pills as instructed. She is familiar with what each pill looks like and can typically spot if she is missing a pill. Our daughter, Gwendolyn, sometimes gets distracted and occasionally forgets to take her pills. Setting an alarm on a smart phone helps her stay on schedule. At her residential living community, the staff administer her pills, but she keeps a close eye out as well.
Gwendolyn has used a CPAP machine for years to address her sleep apnea. She quickly learned how to put the mask on and immediately adopted the habit. She is sure to bring her CPAP with her on home visits or vacation trips. She is less diligent in using a cleaning machine and needs others to order and change masks and tubes as recommended. Again, the staff at her living community takes care of that but we do check for tank cleanliness and any rash around her mask when we see her on FaceTime or on our personal visits.
Connecting your self-advocate with their medical conditions and prescriptions is quite important in empowering them in their Person-Centered Plan. As the Six Most Common Health Risks section notes, many conditions afflict adolescents and adults with Down syndrome, all of which necessitate awareness and management by self-advocates and their families.
Medical Engagement
Regardless of whether your loved one with Down syndrome is 5, 25, 45, or older, there are still actions you can take to manage their health risks. Start by familiarizing yourself, other family members and caregivers, and your self-advocate with the six common health risks. And most critically, ensure your self-advocate’s primary care doctor and specialists are aware of the prevalence of these conditions and why and how they should be monitored and addressed for your family.
Many larger cities offer Down syndrome, transition, or special needs clinics or hospitals that specialize in these needs and typically offer exceptional service. See the National Down Syndrome Congress listing in our Resource section. However, many families may not have access to such care, so it is essential that you research your medical team, test their knowledge, educate them with information, and ensure their dedication to providing your self-advocate with first-class medical attention. A medical team familiar with Down syndrome and common health risks is more likely to properly diagnose issues than mainstream medicine.
Identifying and treating common health issues does more than extend lifespan – it improves the quality of life for your loved one. In many cases, early intervention of common conditions can make a huge difference in your self-advocate’s health, future burdens, and overall independence.
References to all the information contained in this article can be found in the award-winning The Essential Guide for Families with Down Syndrome, available on our website below.
This article is adapted from our award-winning book, The Essential Guide for Families with Down Syndrome, which includes chapters covering housing, financial benefits, work, continuing education and more in detail. Everyone's independence path is different. It's important to use available resources to find the best option for your loved one.
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